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rs794727362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727362(A;G)
Make rs794727362(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51786584
GeneSCN8A
is asnp
is mentioned by
dbSNPrs794727362
dbSNP (classic)rs794727362
ClinGenrs794727362
ebirs794727362
HLIrs794727362
Exacrs794727362
Gnomadrs794727362
Varsomers794727362
LitVarrs794727362
Maprs794727362
PheGenIrs794727362
Biobankrs794727362
1000 genomesrs794727362
hgdprs794727362
ensemblrs794727362
geneviewrs794727362
scholarrs794727362
googlers794727362
pharmgkbrs794727362
gwascentralrs794727362
openSNPrs794727362
23andMers794727362
23andMe allrs794727362
SNPshotrs794727362
SNPdbers794727362
MSV3drs794727362
GWAS Ctlgrs794727362
Max Magnitude0
ClinVar
Risk rs794727362(G;G)
Alt rs794727362(G;G)
Reference Rs794727362(A;A)
Significance Probable-Pathogenic
Disease not provided Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN not provided Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52180368A>G
CLNSRC
CLNACC RCV000176315.1, RCV000285972.1,